HGVS | Genome Assembly |
---|---|
NC_000006.12:g.55248633A>C , CM000668.2:g.55248633A>C | GRCh38 |
NC_000006.11:g.55113431A>C , CM000668.1:g.55113431A>C | GRCh37 |
NC_000006.10:g.55221390A>C | NCBI36 |
NG_012447.1:g.79361A>C | |
NG_012447.2:g.147174A>C |
HGVS | Amino-acid change | |
---|---|---|
ENST00000370862.4:c.224-6A>C MANE Select | ENSP00000359899.3:n.224-6A>C | |
ENST00000370862.3:c.224-6A>C | ENSP00000359899.3:n.224-6A>C | |
ENST00000615358.4:c.224-6A>C | ENSP00000477548.1:n.224-6A>C | |
NM_001526.3:c.224-6A>C | NP_001517.2:n.224-6A>C | |
XM_011514542.1:c.29-6A>C | XP_011512844.1:n.29-6A>C | |
NM_001526.4:c.224-6A>C | NP_001517.2:n.224-6A>C | |
XM_017010798.1:c.224-6A>C | XP_016866287.1:n.224-6A>C | |
NM_001384272.1:c.224-6A>C MANE Select | NP_001371201.1:n.224-6A>C | |
NM_001526.5:c.224-6A>C | NP_001517.2:n.224-6A>C |